Canonical Allele Identifier: CA882241345
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs936182433
gnomAD v3: 19-4090854-C-A
gnomAD v4: 19-4090854-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090854C>A , CM000681.2:g.4090854C>A GRCh38
NC_000019.9:g.4090852C>A , CM000681.1:g.4090852C>A GRCh37
NC_000019.8:g.4041852C>A NCBI36
NG_007996.1:g.38275G>T , LRG_750:g.38275G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-146G>T
ENST00000688002.1:n.3244-146G>T
ENST00000688751.1:n.229-146G>T
ENST00000689792.1:n.997-146G>T
ENST00000262948.10:c.1093-146G>T MANE Select ENSP00000262948.4:n.1093-146G>T
ENST00000262948.9:c.1093-146G>T ENSP00000262948.3:n.1093-146G>T
ENST00000394867.8:c.802-146G>T ENSP00000378336.1:n.802-146G>T
ENST00000597263.5:n.278-146G>T
ENST00000599021.1:c.203-146G>T
ENST00000600584.5:n.2542-146G>T
ENST00000601786.5:n.1394-146G>T
NM_030662.3:c.1093-146G>T , LRG_750t1:c.1093-146G>T NP_109587.1:n.1093-146G>T
XM_006722799.2:c.814-146G>T XP_006722862.1:n.814-146G>T
XM_011528133.1:c.523-146G>T XP_011526435.1:n.523-146G>T
NM_030662.4:c.1093-146G>T MANE Select NP_109587.1:n.1093-146G>T